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M Enns

Showing results (191-200 of 208) with videos related to

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Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
JAMA|March 13, 2014
Clinical interpretation and implications of whole-genome sequencingFrederick E Dewey, Megan E Grove, Cuiping Pan, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.
Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Pageof 21

Showing results (191-200 of 208) with videos related to

Sort By:
Pageof 21
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
JAMA|March 13, 2014
Clinical interpretation and implications of whole-genome sequencingFrederick E Dewey, Megan E Grove, Cuiping Pan, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.
Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Pageof 21